Cleft lip and palate risk factors among otorhinolaryngology: Head and neck surgery patients in two hospitals.

Cleft lip and/or palate is the most prevalent type of head and neck deformity, accounting for 65% of cases. The occurrence of this condition is influenced by both genetic and environmental factors. Cleft defects are classified into 2 types: syndromic cleft lip and palate syndrome and non-syndromic cleft lip and palate syndrome. Cleft lip with or without cleft palate is the most common type of cleft defect, and the surgical repair is the primary treatment option for patients. Our study was a retrospective case-control study that included 132 cases of patients with cleft defects and 132 healthy babies without cleft defects serving as controls. Personal information, including the name, age, and origin of the participants, was collected. Additionally, we collected information on all potential risk factors, including medical history, daily habits, consanguinity between parents, and family history. Information was collected in Excel and analyzed using the Statistical Package for Social Sciences and a Chi-Square test was performed to determine the results and their relationship to cleft lip and palate. Our study identified various risk factors that have a significant association with cleft lip and palate with a P-value <5% in addition to factors that are not considered risk factors. Using relative risk analysis, we were able to rank the top 5 most significant and influential risk factors. The most impactful factor was not taking folic acid during pregnancy. The primary risk factors associated with cleft lip and palate include a family history of the condition, lack of folic acid supplementation, maternal age over 35 years, and high temperatures exceeding 39 °C. Consequently, we recommend that mothers who intend to conceive should take folic acid supplements at a dose of 0.4 to 0.8 mg during the initial trimester of pregnancy. Additionally, we advise careful monitoring of all risk factors, particularly during the first trimester of pregnancy.

Associated medical conditions among 10-year-old children with oral clefts - a retrospective review across three cleft centres: Part 2.

Introduction In many cases, children with oral clefts present with accompanying medical conditions. These associated conditions can add complexity to the patient's dental management, both in terms of their treatment need and risk. Recognition and careful consideration of associated medical conditions is therefore crucial in providing safe and effective care for these patients.Aim This paper is the second in a two-part three-centre series. It investigates the prevalence of medical conditions affecting cleft lip and/or palate patients attending three cleft units within the UK.Method Retrospective review was undertaken within three cleft units: South Wales (SW), Cleft NET East (CNE) and West Midlands (WM). This was completed via assessment of the 10-year audit record appointment clinical notes for the year 2016/2017.Results In total, 144 cases were reviewed (SW = 42; CNE = 52; WM = 50). Of these, 38.9% of patients (n = 56) had associated medical conditions recorded.Discussion The review highlights the variety and impact of medical conditions affecting UK cleft patients providing insight into the consequent complexity of their dental care.Conclusion An awareness of cleft lip and/or palate patients' associated medical conditions is important for all health care professionals involved in their care. Indeed, understanding of the patient's medical needs by multidisciplinary cleft teams is essential for effective planning and completion of holistic care. Involvement of specialists in paediatric dentistry sharing care with general dental practitioners is vital in providing appropriate oral health care and preventive support.

The relationship between maternal periconceptional micronutrient supplementation and non-syndromic cleft lip/palate in offspring.

BACKGROUND: This study aimed to explore the relationship between maternal periconceptional supplementation with folic acid only (FAO) or with multiple micronutrients containing folic acid (MMFA) and non-syndromic cleft lip/palate in offspring. METHOD: The data came from a prenatal health care system and a birth defects surveillance system in Beijing, China, from 2013 to 2018. Information on maternal FAO/MMFA supplementation was collected by questionnaire in the first trimester, and data on cleft lip/palate were collected at delivery or termination of pregnancy. Inverse probability weighting (IPW) by the propensity score to adjust for the confounders and Poisson regression model was used to estimate risk ratios (RRs) and their 95% confidence intervals (CIs). RESULTS: A total of 63,969 participants were included in the study. Compared to the no-supplementation group, the adjusted RR for the supplementation group was 0.51 (95% CI: 0.40, 0.64). And the adjusted RRs for FAO and MMFA compared to the no-supplementation group were 0.56 (95% CI: 0.40, 0.76) and 0.48 (95% CI: 0.35, 0.65), respectively. Compared to supplement FAO and MMFA with less than 8 days out of 10 days, the adjusted RRs for FAO and MMFA with 8 or more days out of 10 days were 1.17 (95% CI: 0.78, 1.75), and 2.05 (95% CI: 1.37, 3.31), respectively. CONCLUSION: Maternal supplementation with micronutrients, either FAO or MMFA, during the periconceptional period can reduce the risk for non-syndromic cleft lip/palate in offspring. However, women should be more cautious with MMFA supplementation.

A Comprehensive Investigation on Potential Risk Factors for NSCL/P in a Rural District of Hebei Province, China.

Non syndromic cleft lip with or without palate (NSCL/P), one of the most common birth defects, is closely related to various risk factors. However, information regarding risk factors for NSCL/P in rural districts in China is very limited thus far. The objective of this study was designed to identify the potential risk factors for NSCL/P in rural districts.A comprehensive retrospective investigation including 435 NSCL/P patients and 402 healthy children was carried out in Hebei Province, China. Multiple logistic regression analysis and transmission disequilibrium test (TDT) were respectively used to identify non-genetic and genetic risk factors for NSCL/P, and then PLINK was used to explore the relationship between non-genetic and genetic risk factors.The results showed that maternal periconceptional exposure to pesticides and herbicides, as well as low parental education level were involved in the increased risk of NSCL/P, whereas maternal folic acid and multivitamin supplementation use during preconception period were associated with the reduced risk of NSCL/P. TDT analysis identified 2 single nucleotide polymorphisms (SNPs) (rs7078160 and rs4752028) in VAX1 and one SNP (rs17563) in BMP4 as the genetic risk factors for NSCL/P. Further analysis showed that the genetic risk factors were closely related with the negative non-genetic risk factors.Our study identified the potential risk factors for NSCL/P in rural districts, thus providing a theoretical basis for the prevention of NSCL/P occurrence.

Descriptive epidemiology of external structural birth defects in Enugu State, Nigeria.

Objectives: To determine the birth prevalence, trend, and characteristics of external structural birth defects occurrence in Enugu Metropolis, Nigeria. Design: Cross-sectional study involving review of delivery records. Setting: The study was conducted at three tertiary hospitals, one public and two missionary, in Enugu Metropolis. Participants: Mothers and their babies delivered between 1 January 2009 and 31 December 2016 in the study facilities. Main outcome measures: Birth prevalence of defects presented as frequency/10,000 births. Other descriptive variables are presented as frequencies and percentages. Results: There were 21530 births with 133 birth defects (birth prevalence: 61.8/10,000 births) and 1176 stillbirths (stillbirth rate: 54.6/1000 births). The frequencies and birth prevalence (/10,000 births) of recorded defects were: Limb deformities 60(27.9), Neural tube defects (NTDs): 36(16.7), Urogenital system defects: 12(5.6), Gastrointestinal system defects 10(4.6) and Orofacial clefts 4(1.9). Birth defects occurrence showed a rising trend from 2009 to 2016. The mean (SD) age of mothers whose babies had Birth defects was 29.1(4.7) years. Only 62(46.6%) of 133 antenatal clinic folders of these women were traceable for further review. Eighteen (29.0%) had febrile illness in early pregnancy, 9(14.5%) had Malaria, 17(27.4%) had <4 antenatal clinic attendance, 7(11.3%) did not take folic acid and 6(9.7%) took herbal medications during pregnancy. Conclusions: Birth defects occurrence showed a rising trend with limb deformities and NTDs having the highest prevalence. Record keeping was poor at the facilities. Birth defects preventive interventions like folic acid supplementation for women-of-childbearing age should be promoted in Enugu Metropolis. Funding: This work was supported by the non-communicable disease Minigrant from the Task Force for Global Health, Decatur, Georgia, USA (TPN-FE-NCD-C2-IFO-9).

Environmental and Genetic Risk Factors of Congenital Anomalies: an Umbrella Review of Systematic Reviews and Meta-Analyses.

BACKGROUND: The prevalence of congenital anomalies in newborns in South Korea was 272.9 per 100,000 in 2005, and 314.7 per 100,000 in 2006. In other studies, the prevalence of congenital anomalies in South Korea was equivalent to 286.9 per 10,000 livebirths in 2006, while it was estimated 446.3 per 10,000 births during the period from 2008 to 2014. Several systematic reviews and meta-analyses analyzing the factors contributing to congenital anomalies have been reported, but comprehensive umbrella reviews are lacking. METHODS: We searched PubMed, Google Scholar, Cochrane, and EMBASE databases up to July 1, 2019, for systematic reviews and meta-analyses that investigated the effects of environmental and genetic factors on any type of congenital anomalies. We categorized 8 subgroups of congenital anomalies classified according to the 10th revision of the International Statistical Classification of Diseases (ICD-10). Two researchers independently searched the literature, retrieved the data, and evaluated the quality of each study. RESULTS: We reviewed 66 systematic reviews and meta-analyses that investigated the association between non-genetic or genetic risk factors and congenital anomalies. Overall, 269 associations and 128 associations were considered for environmental and genetic risk factors, respectively. Congenital anomalies based on congenital heart diseases, cleft lip and palate, and others were associated with environmental risk factors based on maternal exposure to environmental exposures (air pollution, toxic chemicals), parental smoking, maternal history (infectious diseases during pregnancy, pregestational and gestational diabetes mellitus, and gestational diabetes mellitus), maternal obesity, maternal drug intake, pregnancy through artificial reproductive technologies, and socioeconomic factors. The association of maternal alcohol or coffee consumption with congenital anomalies was not significant, and maternal folic acid supplementation had a preventive effect on congenital heart defects. Genes or genetic loci associated with congenital anomalies included MTHFR, MTRR and MTR, GATA4, NKX2-5, SRD5A2, CFTR, and 1p22 and 20q12 anomalies. CONCLUSION: This study provides a wide perspective on the distribution of environmental and genetic risk factors of congenital anomalies, thus suggesting future studies and providing health policy implications.

Maternal periconceptional folic acid supplementation reduced risks of non-syndromic oral clefts in offspring.

Maternal periconceptional folic acid supplementation (FAS) has been documented to be associated with decreased risk of nonsyndromic oral clefts (NsOC). However, the results remain inconclusive. In this population-based case-control study of 807 singletons affected by NsOC and 8070 healthy neonates who were born between October 2010 and September 2015 in Chengdu, China, we examined the association of maternal FAS with the risk of nonsyndromic cleft lip with or without cleft palate (NsCL/P), and cleft palate (NsCP). Unconditional logistic regression analysis was used to estimate the crude and adjusted odds ratios (ORs) and 95% confidential intervals (CI). Significant associations were found between maternal periconceptional FAS and decreased risk of NsCL/P (aOR = 0.41, 95% CI 0.33-0.51). This protective effect was also detected for NsCL (aOR = 0.42, 95% CI 0.30-0.58) and NsCLP (aOR = 0.41, 95% CI 0.31-0.54). Both maternal FAS started before and after the last menstrual period (LMP) were inversely associated with NsCL/P (before LMP, aOR = 0.43, 95% CI 0.33-0.56; after LMP, aOR = 0.41, 95% CI 0.33-0.51). The association between NsCP and maternal FAS initiating before LMP was also found (aOR = 0.52, 95% CI 0.30-0.90). The findings suggest that maternal periconceptional FAS can reduce the risk of each subtype of NsCL/P in offspring, while the potential effect on NsCP needs further investigations.

Dental Anomalies Associated with Orofacial Cleft among a Group of Individuals in Northwestern Nigeria.

BACKGROUND: Orofacial clefts are the most common orofacial congenital malformations and dental anomalies are more prevalent in such individuals. OBJECTIVES: To assess the frequency and distribution of orofacial clefts and associated dental anomalies in a group of patients with orofacial clefts. MATERIALS AND METHODS: A retrospective study involving the assessment of dental records of orofacial cleft patients who had their surgical repair at a health institution between March, 2013 and December, 2019. Their socio demographic characteristics, type of cleft, type of dental anomaly observed, teeth affected and number of teeth affected were reviewed. The records were analysed using IBM SPSS, version 21 and Chi square test to compare differences between groups while the level of significance was set at P < 0.05. RESULTS: A total number of 62 records were studied. More than half were males 36(58.1%) with a mean age of 16 (+ 15.6) years. The most frequent type of cleft was unilateral cleft lip (64.5%), majority had their cleft (65.3%) and dental anomalies (80.7%) on the left side of the face (p=0.001). The most frequently recorded dental anomaly was hypodontia/missing teeth (62.9%) and there was a significant relationship between tooth rotations and cleft lip. CONCLUSION: Unilateral left cleft lip was the most prevalent. Hypodontia/missing teeth was the most common dental anomaly among the study group. Tooth rotations were seen more in patients with cleft of the lip (CL). Individuals with orofacial cleft requires holistic health care so as to improve their quality of life.

Birth Prevalence and Risk Factors Associated With CL/P in Thailand.

INTRODUCTION: The objectives of this study were to obtain the birth prevalence of cleft lips and/or cleft palates (CL±P) and to identify potential associated risk factors in the population of the Northeast (NE) region of Thailand. METHODS: The data were collected from October 1, 2012, to September 30, 2013, for infant deliveries with nonsyndromic CL±P in all hospitals of 4 provinces in the region. Workshops were conducted to establish diagnostic criteria, treatment guidelines, referral systems, data collection, and data reporting. All patients included in this study, including a case (the child born with cleft lip and palate [CLP]) and 2 control cases (2 following children born without CLP in the same hospital), completed a questionnaire regarding demographics, cleft characteristics, and factors of interest such as alcohol intake, smoking, vitamin use, and medication. Unadjusted and adjusted odds ratio were presented for the magnitude of associations between proposed risk factors and CL±P along with 95% CIs. RESULTS: The overall birth prevalence of CL±P was 1.93 per 1000 live births. There was a significant difference in percentages of infants with low birth weights (P = .03), family history of CL±P (P = .01) in cases than controls. Mothers who took self-medication or a menstrual regulation supplement were more likely to have the child with CL±P (P = .01 adjusted). CONCLUSIONS: The prevalence of CL±P in the NE Thailand was high. Low infant birth weight, family history of CL±P, and the use of self-medication or menstrual regulation herbal supplement was significant factors.

Environmental Risk Factors for Nonsyndromic Cleft Lip and/or Cleft Palate in Xinjiang Province, China: A Multiethnic Study.

OBJECTIVE: To determine the risk factors of the occurrence of nonsyndromic cleft lip and/or cleft palate (NSCL/P) in Xinjiang Province, China. DESIGN: The study included 359 patients of NSCL/P and 310 controls. Information about sociodemographic characteristics, lifestyle behaviors, negative life events, possible environmental hazards exposures, and use of supplementations were collected from cases and controls. Both t test and χ2 tests were used for group comparisons. Multivariable logistic regression was used to estimate the independent associations between environmental risk factors and the presence of NSCL/P. The receiver operating characteristic curve was used to establish the predictive variables for the occurrence of NSCL/P. RESULTS: The results showed that maternal pesticide exposure (odds ratio [OR] = 11.40, 95%CI: 5.40-24.10), antibiotic drugs use (OR = 1.32, 95%CI: 1.14-1.53), paternal smoking (OR = 3.30, 95%CI: 1.87-5.83), threatened abortion (OR = 12.2, 95%CI: 3.29-45.25) were associated with increased risk of NSCL/P in offspring. In contrast, maternal moderate (OR = 0.43, 95%CI: 0.20-0.92) and middle physical workload (OR = 0.48, 95%CI: 0.0.23-0.97), vitamin-B complex supplementations (OR = 0.11, 95%CI: 0.03-0.41), calcium and iron (OR = 0.27, 95%CI: 0.08-0.90) supplementations were associated with reduced risk of NSCL/P in offspring. These variables together explain nearly 60% of the variation of occurrence of NSCL/P. CONCLUSION: These findings from our study may help to develop primary prevention strategies for NSCL/P in Xinjiang.

Population Attributable Fractions of Modifiable Risk Factors for Nonsyndromic Orofacial Clefts: A Prospective Cohort Study From the Japan Environment and Children's Study.

BACKGROUND: Population impact of modifiable risk factors on orofacial clefts is still unknown. This study aimed to estimate population attributable fractions (PAFs) of modifiable risk factors for nonsyndromic cleft lip with or without cleft palate (CL±P) and cleft palate only (CP) in Japan. METHODS: We conducted a prospective cohort study using data from the Japan Environment and Children's Study, which recruited pregnant women from 2011 to 2014. We estimated the PAFs of maternal alcohol consumption, psychological distress, maternal active and passive smoking, abnormal body mass index (BMI) (<18.5 and ≥25 kg/m2), and non-use of a folic acid supplement during pregnancy for nonsyndromic CL±P and CP in babies. RESULTS: A total of 94,174 pairs of pregnant women and their single babies were included. Among them, there were 146 nonsyndromic CL±P cases and 41 nonsyndromic CP cases. The combined adjusted PAF for CL±P of the modifiable risk factors excluding maternal alcohol consumption was 34.3%. Only maternal alcohol consumption was not associated with CL±P risk. The adjusted PAFs for CL±P of psychological distress, maternal active and passive smoking, abnormal BMI, and non-use of a folic acid supplement were 1.4% (95% confidence interval [CI], -10.7 to 15.1%), 9.9% (95% CI, -7.0 to 26.9%), 10.8% (95% CI, -9.9 to 30.3%), 2.4% (95% CI, -7.5 to 14.0%), and 15.1% (95% CI, -17.8 to 41.0%), respectively. We could not obtain PAFs for CP due to the small sample size. CONCLUSIONS: We reported the population impact of the modifiable risk factors on CL±P, but not CP. This study might be useful in planning the primary prevention of CL±P.

Concentrations of organochlorine pesticides in placental tissue are not associated with risk for fetal orofacial clefts.

Previous epidemiological studies have shown that prenatal exposure to organochlorine pesticides (OCPs) entails a variety of adverse impacts on fetal health, but it is not yet known whether it is associated with risk for orofacial clefts (OFCs). This study of 103 fetuses or newborns with a diagnosis of OFCs (cases) and 103 healthy newborns without malformations (controls) examined whether prenatal exposure to OCPs, as indicated by their concentrations in placental tissue, is a risk factor for OFCs. No differences were found in the median concentrations of OCPs between cases and controls, with exception of o,p'-dichlorodiphenyldichloroethylene, o,p'-dichlorodiphenyldichloroethane, and total o,p'-dichlorodiphenyltrichloroethane (DDTs), whose concentrations were higher in controls than in cases (Ps < 0.05). Although higher concentrations of placental δhexachlorocyclohexane and isodrin were found to be associated with decreased risk for OFCs in logistic regression, no association was observed in the Bayesian kernel machine regression, a novel statistical model in analyzing exposure mixtures. Women who reported periconceptional folic acid supplementation had lower placental concentrations of DDTs than women who did not. In conclusion, no association between levels of OCPs in placental tissue and risk for OFCs was observed in this population. Supplementation with folic acid may help decrease the levels of DDTs in placental tissue, but further studies are needed to confirm this unexpected finding.

Maternal multivitamin intake and orofacial clefts in offspring: Japan Environment and Children's Study (JECS) cohort study.

OBJECTIVES: Orofacial clefts are common birth defects with a lack of strong evidence regarding their association with maternal nutrition. We aimed to determine whether a relationship exists between maternal nutrient or multivitamin intake and orofacial clefts. DESIGN: This is a prospective, population-based nationwide cohort study. SETTING: The study was conducted in 15 regional centres, consisting of local administrative units and study areas. PARTICIPANTS: A total of 98 787 eligible mother-child pairs of the Japan Environment and Children's Study were included. INTERVENTION: Exposures were maternal nutrition and the use of supplemental multivitamins in mothers. PRIMARY AND SECONDARY OUTCOME MEASURES: Outcomes were the occurrence of any orofacial cleft at birth. Multinomial logistic regression analyses were used to evaluate the association between maternal multivitamin intake and the incidence of orofacial clefts. RESULTS: Of the 98 787 children, 69 (0.07%) were diagnosed with cleft lip alone, 113 (0.11%) were diagnosed with cleft lip and palate, and 52 (0.05%) were diagnosed with cleft palate within 1 month after birth. Regarding the total orofacial cleft outcome, statistically significant point estimates of relative risk ratios (RR) were determined for multivitamin intake before pregnancy (RR=1.71; 95% CI 1.06 to 2.77) and during the first trimester (RR=2.00; 95% CI 1.18 to 3.37), but the association was not significant for multivitamin intake after the first trimester (RR=1.34; 95% CI 0.59 to 3.01). Maternal micronutrient intake via food was not associated with the incidence of orofacial clefts in offspring. CONCLUSIONS: Intake of multivitamin supplements shortly before conception or during the first trimester of pregnancy was found to be associated with an increased incidence of orofacial clefts at birth. Pregnant women and those intending to become pregnant should be advised of the potential risks of multivitamin supplementation.

Maternal Folic Acid Intake and Risk of Nonsyndromic Orofacial Clefts: A Hospital-Based Case-Control Study in Bangalore, India.

BACKGROUND: Orofacial clefts are the most common congenital anomaly worldwide. Cleft etiology appears to be multifactorial, with genetic and environmental components. Although periconceptional folic acid supplementation has been shown to be protective for neural tube defects, current evidence for its role in cleft prevention is mixed with few studies from low- and middle-income countries. AIM: To investigate the association between periconceptional folic acid intake and incidence of nonsyndromic orofacial clefts among infants in Bangalore, India. METHODS: A hospital-based case-control study (106 cases, 212 controls) utilizing a questionnaire to collect data on prenatal supplements, dietary folate, and potentially confounding factors. Multivariate logistic regression analysis was used to assess relationships between folic acid supplementation and all nonsyndromic clefts, and in separate analyses for cleft lip and/or palate (CL/P) and cleft palate (CP), adjusting for statistically significant variables. RESULTS: A statistically significant protective association was found for separate folic acid supplements (not combined with iron or multivitamins) taken in the periconceptional period and all clefts combined (adjusted odds ratio [OR]: 0.62, 95% confidence interval [CI], 0.45-0.86) and CL/P (adjusted OR: 0.57; 95% CI, 0.38-0.86). Higher levels of dietary folate were found to be associated with a reduced risk for all clefts (adjusted OR: 0.98, 95% CI, 0.96-0.99), CL/P (adjusted OR: 0.98, 95% CI, 0.96-0.99), and CP (adjusted OR: 0.96, 95% CI, 0.93-0.99). CONCLUSION: This study provides limited evidence for a protective association of periconceptional folic acid supplementation with nonsyndromic orofacial clefts. The low proportion of mothers taking folic acid supplements in the periconceptional period highlights the need for increased education and awareness regarding prenatal nutrition.

Determinants and seasonality of major structural birth defects among newborns delivered at primary and referral hospital of East and West Gojjam zones, Northwest Ethiopia 2017-2018: case-control study.

OBJECTIVE: Although infant mortality because of birth defect has increased in both developed and developing countries, had not got attention like other health issues at national, regional, or local levels. Documenting the risk factors that influence the occurrence of birth defects and its seasonality will help to inform the community and to develop preventive strategies for the country. RESULTS: Factors associated with higher likelihood of a major structural birth defects included maternal age; neonates born from women living in urban; and in Dega; history of fever during pregnancy; intake of herbal medicine; and drinking alcohol. Counselling for pregnancy preparation and folic acid supplementation was found protective for the likelihood of birth defect.

Levels of uranium and thorium in maternal scalp hair and risk of orofacial clefts in offspring.

Uranium and thorium are common radioactive elements that exist in the environment. However, few environmental epidemiological studies have focused on their possible effects on congenital malformations. Here, we explored the association between uranium and thorium concentrations in maternal scalp hair grown from 3 months before to 3 months after conception, namely during the periconceptional period and the risk of orofacial clefts (OFCs) in offspring. Our study included 153 women whose pregnancies were affected by OFCs (cases) and 601 women who delivered infants without birth defects (controls) from four provinces in China. Face-to-face interviews were used to collect sociodemographic characteristics with a structured questionnaire. Concentrations of uranium and thorium in maternal scalp hair grown during the periconceptional period were detected using inductively coupled plasma-mass spectrometry. The risk of OFCs in association with higher concentrations of the two radioactive elements was estimated using odds ratios (ORs) and 95% confidence intervals (CIs) while adjusting for potential confounding factors. The levels of uranium and thorium in maternal hair were in agreement with the published literature. After adjusting for several confounders, the ORs of thorium in the highest, upper, and lower quartile versus the lowest quartile were 2.63 (95% CI, 1.41-4.92), 1.98 (95% CI, 1.03-3.79), and 2.73 (95% CI, 1.46-5.12), respectively. No association was found between levels of uranium and the risk of OFCs. Maternal periconceptional exposure to thorium may be a risk factor for OFCs in offspring.

Higher concentration of selenium in placental tissues is associated with reduced risk for orofacial clefts.

BACKGROUND & AIMS: Growing evidence suggests that essential trace element imbalance during pregnancy may contribute to fetal malformations, but the role of essential trace elements in the occurrence of orofacial clefts (OFCs) is unknown. We aimed to examine the association between concentrations of zinc (Zn), manganese (Mn), selenium (Se), cobalt (Co), molybdenum (Mo), and nickel (Ni) in placental tissues and the risk for OFCs in offspring in a rural population in northern China with a high prevalence of OFCs. METHODS: The case-control study subjects were 103 OFC infants and 206 non-malformed infants. The concentrations of selected trace elements in placental tissues were determined using inductively coupled plasma-mass spectrometry. Sociodemographic information was collected from the mothers through face-to-face interviews using a structured questionnaire. The risk for OFCs in association with higher concentrations of the trace elements was estimated using the odds ratio (OR) with its 95% confidence interval (95% CI). RESULTS: The placental median concentrations of Se and Ni were significantly lower, but those of Mo were significantly higher in OFC cases than in controls (all P < 0.05). A Se concentration above the median of all subjects was associated with a 58% reduced risk for OFCs (adjusted OR 0.42, 95% CI 0.23, 0.77) after adjusting for potential confounding factors. The risk for OFCs decreased with increases in placental Se concentrations, with adjusted ORs of 0.45 (95% CI 0.22, 0.92) for the second tertile and 0.22 (95% CI 0.10, 0.49) for the top tertile of Se concentration, with the lowest tertile concentration as the referent (Ptrend < 0.001). No association was observed between placental Zn, Mn, Co, Mo, or Ni concentration and risk for OFC. CONCLUSIONS: The concentration of Se in placental tissues was dose-dependently associated with decreased risk for OFCs in offspring. This finding suggests that maternal Se intake during pregnancy may protect against OFCs in offspring.

Maternal periconceptional consumption of sprouted potato and risks of neural tube defects and orofacial clefts.

BACKGROUND: The association between maternal consumption of sprouted potato during periconceptional period on the development of neural tube defects (NTDs) or orofacial clefts (OFCs) remains unclear. We aimed to examine the association between maternal consumption of sprouted potatoes during periconceptional period and risks of NTDs or OFCs. METHODS: Subjects included 622 NTD cases, 135 OFC cases and 858 nonmalformed controls, were recruited from a case-control study in Shanxi Province of northern China between 2002 and 2007. Information on demographics, maternal sprouted potato consumption, lifestyle behaviors and folic acid supplementation was collected. RESULTS: Consumption of sprouted potatoes was associated with elevated odds of total NTDs (OR = 2.20; 95% CI, 1.12-4.32) and anencephaly (OR = 2.48; 95% CI, 1.10-5.58); no association for spina bifida or encephalocele. Sprouted potato consumption increased the risk of total OFCs (OR = 3.49; 95% CI, 1.29-9.49) and cleft lip with or without cleft palate (CL ± P) (OR = 4.03; 95% CI, 1.44-11.28). CONCLUSION: Maternal consumption of sprouted potatoes during periconceptional period may increase the risks of NTDs and OFCs. Given that potato is commonly consumed around the world, improper preservation and use should be a matter of concern in respect of the potential teratogenicity.

Impacto del Ácido Fólico en la Incidencia de Fisuras Labiopalatinas de la Población Occidente de la Región Metropolitana, Chile / Impact of Folic Acid on the Incidence of Cleft Lip and Palate of the Western Population of the Metropolitan Region, Chile

RESUMEN: La fisura labiopalatina ha tenido una alta frecuencia en la población chilena. A partir del 2000 se inició el programa de fortificación de la harina con ácido fólico a fin de disminuir los defectos del tubo neural. El objetivo de este estudio fue determinar el impacto que presenta la incorporación del ácido fólico en la incidencia de fisuras labiopalatinas de la población del área occidente de la Región Metropolitana. Se recopiló información a partir de las fichas clínicas de la Fundación Gantz seleccionando a los recién nacidos entre 1990 y 2009, correspondientes a las comunas del Servicio de Salud Occidente de la Región Metropolitana. Desde el 2000 hasta el 2004 se observó una disminución importante en las tasas de fisura labiopalatina, con una tasa de 0,88 fisurados por 1000 recién nacidos vivos. Posteriormente se observó un incremento a partir del 2005 hasta el 2009 llegando a una tasa de 1,52 fisurados por 1000 recién nacidos vivos. En conclusión, el efecto protector del ácido fólico se evidencia en la disminución de las tasas de los recién nacidos con fisuras durante los primeros años de su implementación. Sin embargo, posteriormente se observó un aumento de dichas tasas, lo cual podría deberse al incumplimiento de la norma.

ABSTRACT: Cleft lip and palate has had a high frequency in the Chilean population. From the year 2000 a flour fortification program with folic acid was initiated in order to reduce the defects of the neural tube. The objective of this study was to determine the impact of the incorporation of folic acid in the incidence of cleft lip and palate of the population of the western area of the Metropolitan Region. Information was collected from clinical records of the Gantz Foundation, selecting newborns from 1990 to 2009, corresponding to the districts of the western sector of the Metropolitan Region. From 2000 to 2004 there was a significant decrease in cleft lip and palate rates, with a rate of 0.88 cases per 1000 live births. Subsequently, an increase was observed from 2005 to 2009, reaching a rate of 1.52 cases per 1000 live births. In conclusion, the protective effect of folic acid is evidenced in the reduction of the rates of newborns with cleft palate during the first years of its implementation. However, an increase in these rates was subsequently observed, which could be due to noncompliance with the standard.

Risk factors and comorbidities in Brazilian patients with orofacial clefts.

Considering that environmental risk factors substantially contribute to the etiology of orofacial clefts and that knowledge about the characteristics and comorbidities associated with oral clefts is fundamental to promoting better quality of life, this study aimed to describe the risk factors, main characteristics, and comorbidities of a group of patients with cleft lip and/or cleft palate (CL/P) from Rio Grande do Norte (RN), Brazil. Data were obtained from 173 patients with CL/P using a form from the Brazilian database on Orofacial Clefts. Most patients were male with cleft lip and palate and had a normal size and weight at birth; presented few neonatal intercurrent events; and had anemia and respiratory and cardiovascular diseases as main associated comorbidities. They also required timely surgical rehabilitation and multidisciplinary care to stimulate their neuropsychomotor development. In addition, a high frequency of familial recurrence and of parental consanguinity was evidenced in the studied population, especially for the cleft lip and cleft palate type. Other relevant findings were the considerable maternal exposure to alcohol, infections, smoking, and hypertension, as well as low supplementation with vitamins and minerals and deliberate consumption of analgesics, antibiotics, and antihypertensives during pregnancy. Characterization of the CL/P patient profile is essential for the planning of health services and integration among the health professionals involved in the diagnosis and treatment of these malformations. Our results reinforce the need for additional research to confirm the association between environmental factors and the development of orofacial clefts.